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Down Syndrome In Children: What We Know And What We Need To Know

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Down syndrome (DS) is a genetic disorder caused when abnormal cell division results in an extra full or partial copy of chromosome 21. This extra genetic material is the cause of the developmental changes and physical features associated with DS (Mayo Clinic Staff, 2018). There are 3 different types of DS; Trisomy 21 accounts for 95% of people who have DS and is a result of three copies of chromosome 21, instead of two. The other two rare types are translocation, resulting from when part of chromosome 21 attaches itself to another chromosome (usually 14), and mosaicism, occurring when some cells during cell division end up having 3 copies of chromosome 21 instead of two (CDSS, 2018).

Approximately 1 in 750 live born babies in Canada have DS, making it the most frequently occurring genetic chromosomal disorder in Canada, and one of the most common worldwide (Public Health Agency of Canada, 2017). Due to the well-defined physical characteristics associated with DS, including a small chin, slanted eyes, a flat nasal bridge, and a large tongue, most infants with DS are identified at birth, which can later be confirmed with chromosomal analysis (Down Syndrome Education International, 2018). Intellectual and developmental delays are common amongst children with DS, which also puts them at an increased risk of developing several medical conditions. According to the Public Health Agency of Canada, the most reported cause of death in children and young adults with DS are congenital heart defects and respiratory infections.

It is important to note that there are no known environmental or behavioral factors that cause DS, despite experts investigating potential links (Mayo Clinic Staff, 2018). Older mothers (over the age of 35), have a greater chance of giving birth to a child with DS because older eggs have a greater risk of improper cell division, although children with DS are born to parents of all ages, social, racial and economic backgrounds (Down Syndrome Education International, 2018). In unlikely cases (3-4%), both men and women can pass the genetic translocation for DS to their children, putting these couples at higher risk. Parents who have one child with DS have an increased risk of having another child with DS. In these instances, a genetic counselor can be helpful in accessing the risk of having a second child with DS (Mayo Clinic Staff, 2018).

Early research on families of children with DS reflected an automatic assumption to suffer because of the child (Cunningham, 1996). For parents, behavioral problems in the child with DS was the most significant factor contributing to negative stress (Cunningham, 1996). Cunningham states that lower mental ability, repeated infections, and health problems in childhood years were also more common amongst children with behavioral problems. Lack of resources was also linked to family well-being, showing that inadequate housing, financial problems, and lack of access to a car was associated with high parental stress levels and poorer family relationships between parents and their child with DS (Cunningham, 1996). It cannot, however, be assumed that the family or individual members of such are ‘at risk’ for psychological problems based solely on a child having DS. It was found that majority of families (~70%) had adapted positively to their child with DS and were more likely to feel the child had positively contributed to the family (Cunningham, 1996).

The perception remains that infants born with DS are still not openly accepted by society, and sometimes parents. This lack of acceptance creates numerous complex ethical challenges in treating babies diagnosed with DS. Studies argue that health professionals are responsible in making public attitudes more accepting of DS and should encourage social and community involvement of children with DS. Understanding attitudes of the public toward individuals with DS is crucial because negative attitudes can create barriers to social integration, which can consequently impact overall quality of life (Cuskelly, Hauser-Cram, & Van Riper, 2008).

Unfavorable attitudes were held by many youth with 30% stating that students with DS should go to separate schools, 27% agreed that they were not willing to work with a student with DS on as school project, and nearly 40% indicated they would not be willing to spend time with a student with DS outside of school (Petty & Sadler, 1996). Attitudes and beliefs are undoubtedly slow to change, and children with DS may still be categorized by a set of stereotypes that are related to outdated information and approaches. In a study on integration of children with DS in mainstream schooling, there was a 100% consensus from educators regarding the need to improve the standard of integration of these children into mainstream primary classes (Petty & Sadler, 1996).

On the other hand, there have been numerous studies focusing on the protective factors associated with DS. Evidence shows that around 70% of families who have a child with DS function like families who do not have a child with DS, and when compared to families without a presence of DS, parents did not show elevated levels of stress (Cunningham, 1996). Additionally, couples who have a child with DS sit well below the national average of divorce rates (Cuskelly, Hauser-Cram, & Van Riper, 2008). When surveyed, the consensus amongst couples who had children with DS felt that there were no disadvantages to having a child with DS. In fact, in most cases it was reported that it had changed their lives for the better and felt that they were less materialistic and self-centered (Cuskelly, Hauser-Cram, & Van Riper, 2008).

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Early intervention is another approach aimed at improving child development outcomes. The Canadian Down Syndrome Society (CDSS) provides a variety of educational documents for expecting parents and the local support resources available across the country to support families who are expecting/have a child with DS. Specifically, the CDSS ‘New Parent Package’, contains numerous letters from parents of children with Down syndrome, their personal struggles, victories, and health complications to be aware of.

People with Down syndrome may face unique health complications beyond typical illnesses. Although no individual with Down syndrome will have all potential health complications, every child needs good preventative medical care. Teamwork and communication between the family and doctors is necessary to limit potential problems, and provide specialized individual treatments throughout their life, should they occur. Because no case of DS is the same, the Down Syndrome Medical Interest Group has published a set of guidelines suggested to be followed to ensure optimal health and development of a child with DS. The document includes information on the usual development of children with DS. By understanding and following what is normal for a child with DS makes it easier to recognize any additional problems at an early stage (DSMIG, 2011). The document contains information on timeframes of developmental milestones, associated health risks/problems, immunizations, a suggested schedule of health checks, sources for help and advice, and height + weight charts designed specifically for infants/children with Down syndrome.

Having a set of guidelines that is given to every couple/parent that has a child with DS is very important in maintaining healthy development for the child throughout their lifespan. These guidelines, however, are not compulsory to be followed, which could lead to undiagnosed health problems and reduced quality of life for children with DS if the guidelines are ignored. As previously mentioned, communication between the family and doctors caring for a child with DS is extremely important. To achieve the most favorable outcomes, these guidelines should mandatory for all families to follow. Since DS is the most common chromosomal abnormality in the country, there should also more awareness of the condition amongst doctors and the medical community.

The effectiveness of these guidelines were evaluated for Canada in a 2007 study with the results showing the guidelines on physical examinations and medical referrals were being followed in the 5-12-year old age group, but dropped below 50% in those 19 and older (Virji-Babul et al, 2007). In the 1-4-year old category, referrals for screening of celiac disease and hearing tests were reported to have occurred in less than 30% of those with DS. This is alarming, as rates of both problems are over double in children with DS compared to children without. Many of the recommendations regarding behavioral problems, transition planning, diet, exercise and issues on sexual health were followed sporadically in all age groups (Virji-Babul et al, 2007). This evidence presents a cause for concern for further research on the level of familiarity with the DSMIG guidelines among pediatricians and family physicians.

Personally, I think the associated stigma and and lack of education the general public has on DS puts society at an immense disadvantage. Few to many people realize that if given the opportunity people with DS can actively contribute to society. Today, people with DS can go to school, finish university, find careers, and get married, just like those without DS. Working at L’Arche, I have had a range of experiences interacting with those with DS. As a society, I think we need to be more inclined to see the ability of those with DS and realize that it is not something to be afraid of. Through my experiences I’ve learned that those with DS can do everything I can do, sometimes in different ways, but it is important to acknowledge that different does not mean bad.

With reports claiming to be on the verge of ‘eradicating’ DS, it is important to look at the root cause, why? For many, it’s about quality of life; parents sadly believe that a baby with DS translates into an unfulfilled or bad life. However, in 2011, Harvard-trained physician Brian Skoto published a study that reveled people with DS have a very high level of satisfaction in their lives and are generally very happy. Similarly, family members of people with DS also ranked high in levels of personal fulfillment (Skotko). Personally, I’ve seen that people with DS are not just happy but make their peers and family members happy as well.

To reiterate, we need to change the way we speak about DS. If we stop associating the word ‘disease’ with DS there would be no reason to accompany breaking the news to new parents with the phrase, ‘I’m sorry’, or research into aborting all babies predisposed to the condition. For Canada, to better address DS, there should be integration policies in place so that children with DS can become actively involved in their communities, grow their social networks, and expose people without DS and inadequate knowledge on the condition to the wide range of abilities of those with DS have to offer.


  1. CDSS. (2018). About Canadian Down Syndrome Society (CDSS). (C. D. Society, Producer) Retrieved November 12, 2018, from
  2. Cunningham, C. C. (1996). Families of children with Down syndrome. School of Health, 4(3), pp. 87-95.
  3. Cuskelly, M., Hauser-Cram, P., & Van Riper, M. (2008). Families of children with Down syndrome:What we know and what we need to know. Down Syndrome Research and Practice, pp. 105-113. Retrieved November 16, 2018, from
  4. Down Syndrome Education International. (2018). About Down syndrome. Retrieved November 12, 2018, from
  5. DSMIG. (2011). PCHR insert for babies born with Down syndrome. pp. 1-29. Retrieved November 16, 2018, from
  6. Mayo Clinic Staff. (2018). Down Syndrome. (J. L. Hoecker, Ed.) Retrieved November 12, 2018, from
  7. Petty, H., & Sadler, J. (1996). The integration of children with Down syndrome in mainstream schools: Teachers’ knowledge, needs, attitudes and expectations. 4(1), pp. 16-24. Retrieved November 12, 2018, from
  8. Public Health Agency of Canada. (2017). Down Syndrome Surveillance in Canada 2005-2013. Healthy Living. Government of Canada . Retrieved November 16, 2018, from
  9. Skotko, B. (2011). Self-perceptions from people with Down syndrome. Retrieved November 16, 2018, from
  10. Virji-Babul et al, N. (2007). Use of health care guidelines in patients with Down syndrome by family physicians across Canada. Peadiatrics & Children’s Health, 12(3), 179-183.

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